loading...| Preferred Name |
Canavan Disease |
|
| Synonyms |
Spongy Degeneration of Central Nervous System Canavan Disease |
|
| Definitions |
A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84611 |
|
| ALT_DEFINITION |
Spongy degeneration of central nervous system, spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy. |
|
| code |
C84611 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| DEFINITION |
A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head. |
|
| FULL_SYN |
Spongy Degeneration of Central Nervous System Canavan Disease |
|
| label |
Canavan Disease |
|
| Preferred_Name |
Canavan Disease |
|
| prefixIRI |
Thesaurus:C84611 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0206307 |
|
| subClassOf |